ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis by Invitae

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 178
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HGVS dbSNP
NC_000001.11:g.(?_197084314)_(197478465_?)del
NC_000001.11:g.(?_197268194)_(197268492_?)del
NC_000001.11:g.(?_197268413)_(197357013_?)del
NC_000001.11:g.(?_197328412)_(197442544_?)del
NC_000001.11:g.(?_197438537)_(197442544_?)del
NC_000001.11:g.(?_68438187)_(68484090_?)del
NC_000001.11:g.(?_9981011)_(9982721_?)del
NC_000001.11:g.197435256_197441674del
NC_000014.9:g.(?_21317696)_(21320177_?)del
NC_000014.9:g.21302518del
NC_000017.11:g.(?_8002902)_(8016550_?)del
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter)
NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter)
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter) rs61750161
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.4(GUCY2D):c.2377del (p.Glu793fs) rs1555635668
NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs)
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.2516del (p.Thr839fs)
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter) rs1555635778
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs)
NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter)
NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter)
NM_000180.4(GUCY2D):c.3224+1G>C rs757823463
NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter)
NM_000180.4(GUCY2D):c.914del (p.His305fs) rs1598144694
NM_000180.4(GUCY2D):c.926_939del (p.Leu309fs)
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744
NM_000329.3(RPE65):c.10del (p.Gln4fs) rs747393487
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)
NM_000329.3(RPE65):c.147_148insCAAA (p.Phe50fs)
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583
NM_000329.3(RPE65):c.421G>T (p.Glu141Ter)
NM_000329.3(RPE65):c.507C>A (p.Cys169Ter)
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)
NM_000329.3(RPE65):c.829_833del (p.Asp277fs)
NM_000329.3(RPE65):c.893del (p.Lys298fs) rs61752902
NM_000329.3(RPE65):c.95-2A>T rs61751279
NM_000329.3(RPE65):c.962dup (p.Asn321fs) rs61752906
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436
NM_000554.6(CRX):c.152_153del (p.Leu51fs)
NM_000554.6(CRX):c.262_275del (p.Phe87_Lys88insTer)
NM_000554.6(CRX):c.404del (p.Pro135fs) rs1064797246
NM_000554.6(CRX):c.447dup (p.Ser150fs) rs61748444
NM_000554.6(CRX):c.449C>G (p.Ser150Ter) rs864309706
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) rs1599991611
NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs)
NM_001377523.1(RPGRIP1):c.145C>T (p.Gln49Ter)
NM_001377523.1(RPGRIP1):c.1465dup (p.Arg489fs)
NM_001377523.1(RPGRIP1):c.759del (p.Tyr255fs)
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg) rs1264794214
NM_014336.5(AIPL1):c.277-2A>G rs140808549
NM_014336.5(AIPL1):c.547G>T (p.Gly183Ter)
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser) rs142326926
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_018418.5(SPATA7):c.1195C>T (p.Gln399Ter)
NM_018418.5(SPATA7):c.1200_1201del (p.Asn400fs)
NM_018418.5(SPATA7):c.960dup (p.Pro321fs) rs386834241
NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.3(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.3(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766
NM_020366.3(RPGRIP1):c.1892A>G (p.His631Arg)
NM_020366.3(RPGRIP1):c.2017C>T (p.Gln673Ter) rs1566341956
NM_020366.3(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701
NM_020366.3(RPGRIP1):c.2465_2468dup (p.Ala824fs)
NM_020366.3(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val)
NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter) rs371526758
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)
NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser) rs778606847
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471
NM_152443.3(RDH12):c.210dup (p.Arg71fs) rs797044761
NM_152443.3(RDH12):c.250C>T (p.Arg84Ter) rs1349849938
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315
NM_152443.3(RDH12):c.316C>T (p.Arg106Ter)
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) rs202126574
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) rs104894474
NM_152443.3(RDH12):c.437T>A (p.Val146Asp)
NM_152443.3(RDH12):c.446T>C (p.Leu149Pro)
NM_152443.3(RDH12):c.451C>G (p.His151Asp) rs104894475
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337
NM_152443.3(RDH12):c.488del (p.Lys163fs)
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp)
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939
NM_152443.3(RDH12):c.535C>G (p.His179Asp)
NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter)
NM_152443.3(RDH12):c.59_62CATC[1] (p.Ile22fs) rs794729650
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg) rs753959716
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313
NM_152443.3(RDH12):c.680_683del (p.Ala227fs)
NM_152443.3(RDH12):c.778del (p.Glu260fs) rs527236099
NM_152443.3(RDH12):c.784dup (p.Ala262fs) rs1594867551
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152443.3(RDH12):c.848+2T>C rs878853338
NM_152443.3(RDH12):c.869dup (p.Ser291fs)
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_183059.2(RD3):c.112C>T (p.Arg38Ter) rs786205148
NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter) rs778627080
NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter)
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) rs115352681
NM_201253.3(CRB1):c.1334_1740del (p.Cys445fs)
NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter)
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)
NM_201253.3(CRB1):c.1431del (p.Ser478fs) rs1553260321
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) rs62636264
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808
NM_201253.3(CRB1):c.1697del (p.Glu566fs)
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val)
NM_201253.3(CRB1):c.1949G>A (p.Trp650Ter)
NM_201253.3(CRB1):c.2129-1G>C
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) rs145282040
NM_201253.3(CRB1):c.2229_2230insTCCATGTTGAAGC (p.Arg744fs)
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) rs375040930
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137
NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter) rs1571540037
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) rs745348555
NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser) rs776591659
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) rs62636271
NM_201253.3(CRB1):c.2578del (p.Gln860fs)
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter) rs143511261
NM_201253.3(CRB1):c.3110_3143dup (p.Ser1049fs)
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr) rs62635656
NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs)
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter) rs564754426
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275
NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe)
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter) rs757740068
NM_201253.3(CRB1):c.379C>T (p.Gln127Ter)
NM_201253.3(CRB1):c.3952A>T (p.Lys1318Ter)
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) rs1057520152
NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter)
NM_201253.3(CRB1):c.4039del (p.Thr1347fs) rs745422941
NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter) rs763324776
NM_201253.3(CRB1):c.437_440AGAT[1] (p.Asp148fs) rs1571848688
NM_201253.3(CRB1):c.481del (p.Ala161fs)
NM_201253.3(CRB1):c.490C>T (p.Gln164Ter)
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.522T>A (p.Cys174Ter)
NM_201253.3(CRB1):c.523_532dup (p.Tyr178fs)
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) rs764256655
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.661_662TG[1] (p.Cys221_Glu222delinsTer)
NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs) rs886043587
NM_201253.3(CRB1):c.993_994CA[1] (p.Thr332fs)
Single allele

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